Peer-reviewed · Genes · 2022
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland
The study evaluated the introduction of whole genome sequencing for rare disease diagnostics in Northern Ireland under the UK 100,000 Genomes Project, drawing on surveys, interviews and a workshop with over 400 participants. It recommends improvements to consent, education, computational infrastructure and multidisciplinary collaboration to mainstream genomic medicine.
Kerr et al.
The study evaluated the introduction of whole genome sequencing for rare disease diagnostics in Northern Ireland under the UK 100,000 Genomes Project, drawing on surveys, interviews and a workshop with over 400 participants. It recommends improvements to consent, education, computational infrastructure and multidisciplinary collaboration to mainstream genomic medicine.
Dante Labs’ involvement
This paper discusses Dante Labs as an example of a direct-to-consumer whole genome sequencing provider, named alongside Veritas and Nebula Genomics, offering whole genome sequencing for approximately £500–£1500. The text notes that costs of this kind do not always include sample validation, detailed interpretation of variants of uncertain significance with functional interrogation, re-analysis, exploration of non-coding elements, or clinical sequencing validation of prioritised variants. It also refers to the UK Science and Technology Committee report on direct-to-consumer genomic testing (2021–2022), which highlights that most providers self-certify the safety and efficacy of their services and calls for external assessment prior to release on the UK market.
Dante Labs did not carry out any laboratory, analytical or other work for this study, and the paper describes no role for us beyond this mention. The project it reports is an NHS research project, which the text distinguishes from commercial direct-to-consumer testing.
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